BMC Medical Genetics (Jan 2009)

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

  • Vatta Serena,
  • Not Tarcisio,
  • Paavola-Sakki Paulina,
  • Halme Leena,
  • Turunen Ulla,
  • Färkkilä Martti,
  • Széles György,
  • Pocsai Zsuzsa,
  • Ádány Róza,
  • Kaukinen Katri,
  • Kurppa Kalle,
  • Korponay-Szabo Ilma R,
  • Ziberna Fabiana,
  • Lappalainen Maarit,
  • Suomela Sari,
  • Kainu Kati,
  • Dukes Emma,
  • Koskinen Lotta LE,
  • Einarsdottir Elisabet,
  • Ventura Alessandro,
  • Löfberg Robert,
  • Torkvist Leif,
  • Bresso Francesca,
  • Halfvarson Jonas,
  • Mäki Markku,
  • Kontula Kimmo,
  • Saarialho-Kere Ulpu,
  • Kere Juha,
  • D'Amato Mauro,
  • Saavalainen Päivi

DOI
https://doi.org/10.1186/1471-2350-10-8
Journal volume & issue
Vol. 10, no. 1
p. 8

Abstract

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Abstract Background Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases. Methods We studied association of single-nucleotide variants in IL23R with IBD in Swedish patients, in both Crohn's disease (CD) and ulcerative colitis (UC) subsets. The same genetic variants were also studied in Finnish patients with psoriasis or celiac disease, and in Hungarian and Italian patients with celiac disease. Results Association of IL23R with IBD was replicated in our Swedish patients, and linkage and association of the IL23R region with psoriasis was found in the Finnish population. The IL23R region was also linked to celiac disease in Finnish families, but no association of IL23R variants with celiac disease was found in the Finnish, Hungarian or Italian samples. Conclusion Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. It is also the first study to report linkage and association of the IL23R region with psoriasis in the Finnish population. Importantly, this is the first report of linkage of the IL23R region to celiac disease, a chronic inflammatory condition in which IL23R has not been previously implicated.